A RUNX2/PEBP2αA/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia

Cleidocranial dysplasia (CCD), an autosomal-dominant human bone disease, is thought to be caused by heterozygous mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer binding protein 2αA (PEBP2αA)/core-binding factor A1 (CBFA1). To understand the mechanism underlying the pathogenesis of CCD...

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Autores principales: Zhang, Yu-Wen, Yasui, Natsuo, Ito, Kosei, Huang, Gang, Fujii, Makiko, Hanai, Jun-ichi, Nogami, Hiroshi, Ochi, Takahiro, Miyazono, Kohei, Ito, Yoshiaki
Formato: Artigo
Lenguaje:Inglês
Publicado: The National Academy of Sciences 2000
Materias:
Biological Sciences
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC27062/
https://ncbi.nlm.nih.gov/pubmed/10962029
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